Canonical Allele Identifier: CA2553415312

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627957_54627958del , CM000670.2:g.54627957_54627958del	GRCh38
NC_000008.10:g.55540517_55540518del , CM000670.1:g.55540517_55540518del	GRCh37
NC_000008.9:g.55703070_55703071del	NCBI36
NG_009840.1:g.16891_16892del
NG_009840.2:g.16891_16892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4075_4076del MANE Select	ENSP00000220676.1:p.Thr1359Ter
ENST00000636932.1:c.787+5669_787+5670del	ENSP00000489857.1:n.787+5669_787+5670del
ENST00000637698.1:c.787+5669_787+5670del	ENSP00000490104.1:n.787+5669_787+5670del
ENST00000220676.1:c.4075_4076del	ENSP00000220676.1:p.Thr1359Ter
NM_006269.1:c.4075_4076del	NP_006260.1:p.Thr1359Ter
XM_017013721.1:c.4096_4097del	XP_016869210.1:p.Thr1366Ter
XM_017013722.1:c.4075_4076del	XP_016869211.1:p.Thr1359Ter
NM_001375654.1:c.787+5669_787+5670del	NP_001362583.1:n.787+5669_787+5670del
NM_006269.2:c.4075_4076del MANE Select	NP_006260.1:p.Thr1359Ter